ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827469076
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1506293
ClinVar RCV Id:
RCV002006622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336831.1:p.Glu507Val
CA411026554
NM_001349902.1:c.1520A>T